Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
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DOI：
10.1016/j.ajhg.2012.10.017
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发表时间：
2012-12-07
影响因子：
9.8
通讯作者：
de Brouwer, Arjan P. M.
中科院分区：
文献类型：
--
作者：
Schuurs-Hoeijmakers, Janneke H. M.;Geraghty, Michael T.;de Brouwer, Arjan P. M.
我们报告了4个家族，由于编码三种哺乳动物细胞内磷脂酶A（1）（iPLA（1））之一的DDHD2的隐性突变，受到复杂遗传性痉挛性截瘫（HSP）临床表现的影响。这种HSP综合征的核心表型包括非常早发型（
We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very early-onset (